Variant report

Variant	rs554530382
Chromosome Location	chr2:172343088-172343089
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:172342986-172343640	K562	blood:	n/a	n/a
2	POLR2A	chr2:172342842-172343171	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172337093..172339286-chr2:172342901..172345235,2	K562	blood:
2	chr2:172337490..172340413-chr2:172341579..172343907,2	K562	blood:

Variant related genes	Relation type
DAP3P2	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv3354950	chr2:172342591-172343517	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172306000-172348000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:172309600-172348400	Weak transcription	Fetal Heart	heart
3	chr2:172327000-172346800	Weak transcription	Colonic Mucosa	Colon
4	chr2:172327200-172344000	Weak transcription	Gastric	stomach
5	chr2:172327200-172346600	Weak transcription	Thymus	Thymus
6	chr2:172327200-172348800	Weak transcription	Spleen	Spleen
7	chr2:172327400-172343400	Weak transcription	A549	lung
8	chr2:172327400-172346800	Weak transcription	Hela-S3	cervix
9	chr2:172327400-172347600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:172327600-172344800	Weak transcription	Brain Anterior Caudate	brain
11	chr2:172327800-172346000	Weak transcription	Fetal Brain Male	brain
12	chr2:172330400-172346200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:172331400-172345800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:172331800-172343400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:172332200-172344000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:172332800-172343600	Weak transcription	Fetal Kidney	kidney
17	chr2:172333400-172345400	Weak transcription	NHDF-Ad	bronchial
18	chr2:172333400-172347800	Weak transcription	Brain Angular Gyrus	brain
19	chr2:172334600-172349200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:172334800-172345000	Weak transcription	Fetal Intestine Small	intestine
21	chr2:172334800-172345200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:172334800-172346200	Weak transcription	Psoas Muscle	Psoas
23	chr2:172334800-172346800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:172334800-172347200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:172334800-172349200	Weak transcription	Esophagus	oesophagus
26	chr2:172335000-172345000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:172335200-172346400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:172335400-172349000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:172335600-172344600	Weak transcription	Osteobl	bone
30	chr2:172337200-172344200	Weak transcription	Liver	Liver
31	chr2:172337600-172344800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:172337800-172344200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:172337800-172348000	Weak transcription	Brain Substantia Nigra	brain
34	chr2:172338000-172343400	Weak transcription	Fetal Lung	lung
35	chr2:172338000-172345000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:172338000-172345600	Weak transcription	Fetal Thymus	thymus
37	chr2:172338000-172349400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:172338200-172347000	Weak transcription	HMEC	breast
39	chr2:172338400-172349800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr2:172338600-172345400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr2:172339000-172344800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:172339600-172345400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:172339600-172347800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:172339600-172348000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr2:172339800-172348000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:172339800-172350600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr2:172339800-172352200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:172340000-172343600	Weak transcription	Left Ventricle	heart
49	chr2:172340000-172343800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:172340000-172344400	Weak transcription	Fetal Muscle Leg	muscle

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